Variant report

Variant	rs2282509
Chromosome Location	chr8:107669928-107669929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr8:107669578-107670350	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr8:107669524-107669948	K562	blood:	n/a	n/a
3	TBL1XR1	chr8:107669682-107670044	K562	blood:	n/a	n/a
4	TAF1	chr8:107669892-107670406	H1-hESC	embryonic stem cell:	n/a	n/a
5	TAF1	chr8:107669473-107670396	MCF-7	breast:	n/a	n/a
6	POLR2A	chr8:107669921-107670301	GM12878	blood:	n/a	n/a
7	EP300	chr8:107669491-107670905	ECC-1	luminal epithelium:	n/a	chr8:107670556-107670565 chr8:107669556-107669565 chr8:107669549-107669563 chr8:107669555-107669569
8	RCOR1	chr8:107669637-107670261	Hela-S3	cervix:	n/a	n/a
9	SP1	chr8:107669675-107670144	GM12878	blood:	n/a	chr8:107669797-107669809 chr8:107669792-107669804 chr8:107669799-107669813 chr8:107669794-107669808 chr8:107669793-107669802 chr8:107669797-107669809 chr8:107669794-107669803 chr8:107670069-107670083 chr8:107670077-107670086 chr8:107669798-107669807 chr8:107669799-107669808 chr8:107669794-107669803 chr8:107669732-107669746 chr8:107670066-107670080
10	FOXA1	chr8:107669717-107670092	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr8:107669557-107670715	NB4	blood:	n/a	n/a
12	POLR2A	chr8:107669508-107670286	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr8:107669387-107671001	MCF-7	breast:	n/a	n/a
14	IRF1	chr8:107669605-107670256	K562	blood:	n/a	chr8:107669792-107669806
15	IRF1	chr8:107669286-107670232	K562	blood:	n/a	chr8:107669287-107669296 chr8:107669792-107669806
16	MTA3	chr8:107669280-107671306	GM12878	blood:	n/a	n/a
17	TAF1	chr8:107669568-107669955	HepG2	liver:	n/a	n/a
18	RFX5	chr8:107669899-107670252	HepG2	liver:	n/a	n/a
19	ELF1	chr8:107669820-107670054	HepG2	liver:	n/a	n/a
20	MAX	chr8:107669586-107670814	H1-hESC	embryonic stem cell:	n/a	chr8:107670065-107670075
21	MAX	chr8:107669606-107671144	K562	blood:	n/a	chr8:107670065-107670075
22	CHD2	chr8:107669720-107670186	GM12878	blood:	n/a	chr8:107669794-107669804
23	MYC	chr8:107669678-107670734	MCF-7	breast:	n/a	chr8:107670065-107670075
24	HEY1	chr8:107669507-107670399	HepG2	liver:	n/a	n/a
25	CHD1	chr8:107669321-107670189	H1-hESC	embryonic stem cell:	n/a	chr8:107669794-107669804
26	EP300	chr8:107669398-107670185	K562	blood:	n/a	chr8:107669556-107669565 chr8:107669549-107669563 chr8:107669555-107669569
27	TCF7L2	chr8:107669889-107670139	PANC-1	pancreas:	n/a	n/a
28	TCF7L2	chr8:107669601-107670230	Hela-S3	cervix:	n/a	n/a
29	CTBP2	chr8:107669586-107670623	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr8:107669509-107670275	SK-N-MC	brain:	n/a	n/a
31	HDAC2	chr8:107669420-107670391	MCF-7	breast:	n/a	chr8:107669549-107669563 chr8:107669550-107669564 chr8:107669544-107669558 chr8:107669545-107669559 chr8:107669554-107669568
32	TBL1XR1	chr8:107669583-107670175	GM12878	blood:	n/a	n/a
33	CHD1	chr8:107669064-107671535	IMR90	lung:	n/a	chr8:107669794-107669804
34	TAF1	chr8:107669514-107670818	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr8:107669543-107670371	HEK293	kidney:	n/a	n/a
36	MAX	chr8:107669521-107671199	GM12878	blood:	n/a	chr8:107670065-107670075
37	GATA3	chr8:107669506-107670307	A549	lung:	n/a	n/a
38	MAX	chr8:107669546-107670872	HepG2	liver:	n/a	chr8:107670065-107670075
39	TEAD4	chr8:107669740-107670114	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr8:107669568-107670308	K562	blood:	n/a	n/a
41	CHD2	chr8:107669558-107670284	Hela-S3	cervix:	n/a	chr8:107669794-107669804
42	MAX	chr8:107669378-107671172	NB4	blood:	n/a	chr8:107670065-107670075
43	EP300	chr8:107669550-107670267	H1-hESC	embryonic stem cell:	n/a	chr8:107669556-107669565 chr8:107669555-107669569
44	POLR2A	chr8:107669508-107671420	GM18505	blood:	n/a	n/a
45	POLR2A	chr8:107669509-107671155	GM19099	blood:	n/a	n/a
46	EP300	chr8:107669514-107670007	T-47D	breast:	n/a	chr8:107669556-107669565 chr8:107669549-107669563 chr8:107669555-107669569
47	TBP	chr8:107669559-107670050	Hela-S3	cervix:	n/a	n/a
48	SP1	chr8:107669526-107670207	H1-hESC	embryonic stem cell:	n/a	chr8:107669797-107669809 chr8:107669792-107669804 chr8:107669799-107669813 chr8:107669794-107669808 chr8:107669793-107669802 chr8:107669797-107669809 chr8:107669794-107669803 chr8:107670069-107670083 chr8:107670077-107670086 chr8:107669798-107669807 chr8:107669799-107669808 chr8:107669794-107669803 chr8:107669732-107669746 chr8:107670066-107670080
49	ZNF143	chr8:107669571-107670197	K562	blood:	n/a	n/a
50	POLR2A	chr8:107669496-107670987	GM15510	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:107669906-107669956	PrEC	prostate:	n/a
2	chr8:107669906-107669956	HNPCEpiC	eye:	n/a
3	chr8:107669906-107669956	HCPEpiC	choroid plexus:	n/a
4	chr8:107669906-107669956	A549	lung:	n/a
5	chr8:107669906-107669956	HIPEpiC	eye:	n/a
6	chr8:107669906-107669956	Caco-2	colon:	n/a
7	chr8:107669906-107669956	GM12878	blood:	n/a
8	chr8:107669906-107669956	HL-60	blood:	n/a
9	chr8:107669906-107669956	LNCaP	prostate:	n/a
10	chr8:107669906-107669956	AoSMC	blood vessel:	n/a
11	chr8:107669906-107669956	AG04450	lung:	fetal
12	chr8:107669906-107669956	ProgFib	skin:	n/a
13	chr8:107669906-107669956	NHDF-neo	bronchial:	n/a
14	chr8:107669906-107669956	SK-N-SH	brain:	n/a
15	chr8:107669906-107669956	PANC-1	pancreas:	n/a
16	chr8:107669906-107669956	ovcar-3	ovarian:	n/a
17	chr8:107669906-107669956	SK-N-SH_RA	brain:	n/a
18	chr8:107669906-107669956	NH-A	brain:	n/a
19	chr8:107669906-107669956	HMEC	breast:	n/a
20	chr8:107669906-107669956	MCF10A-Er-Src	breast:	n/a
21	chr8:107669906-107669956	HPAEpiC	pulmonary alveolar:	n/a
22	chr8:107669906-107669956	GM12892	blood:	n/a
23	chr8:107669906-107669956	HRPEpiC	eye:	n/a
24	chr8:107669906-107669956	Hela-S3	cervix:	n/a
25	chr8:107669906-107669956	HCF	heart:	n/a
26	chr8:107669906-107669956	GM06990	blood:	n/a
27	chr8:107669906-107669956	HRCEpiC	kidney:	n/a
28	chr8:107669906-107669956	HUVEC	blood vessel:	n/a
29	chr8:107669906-107669956	AG04449	skin:	fetal
30	chr8:107669906-107669956	Hepatocyte	liver:	n/a
31	chr8:107669906-107669956	HepG2	liver:	n/a
32	chr8:107669906-107669956	CMK	blood:	n/a
33	chr8:107669906-107669956	HEEpiC	esophagus:	n/a
34	chr8:107669906-107669956	GM12891	blood:	n/a
35	chr8:107669906-107669956	HCM	heart:	n/a
36	chr8:107669906-107669956	HEK293	kidney:	embryo
37	chr8:107669906-107669956	ECC-1	luminal epithelium:	n/a
38	chr8:107669906-107669956	BE2_C	brain:	n/a
39	chr8:107669906-107669956	SK-N-MC	brain:	n/a
40	chr8:107669906-107669956	RPTEC	kidney:	n/a
41	chr8:107669906-107669956	AG09319	gingival:	n/a
42	chr8:107669906-107669956	BJ	skin:	n/a
43	chr8:107669906-107669956	K562	blood:	n/a
44	chr8:107669906-107669956	NHBE	bronchial:	n/a
45	chr8:107669906-107669956	HAEpiC	amniotic membrane:	n/a
46	chr8:107669906-107669956	NT2-D1	testis:	n/a
47	chr8:107669906-107669956	AG09309	skin:	n/a
48	chr8:107669906-107669956	HCT-116	colon:	n/a
49	chr8:107669906-107669956	IMR90	lung:	fetal
50	chr8:107669906-107669956	SAEC	small airway:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:107628700..107633249-chr8:107668680..107671616,7	MCF-7	breast:
2	chr8:107628207..107632288-chr8:107667853..107671892,6	MCF-7	breast:
3	chr7:56119419..56122353-chr8:107669214..107670843,2	MCF-7	breast:

Variant related genes	Relation type
OXR1	TF binding region
ENSG00000253582	TF binding region
OXR1	CpG island
ENSG00000253582	CpG island
ENSG00000146731	Chromatin interaction
ENSG00000164830	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1580289	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1601249	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1676420	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1681879	0.89[ASW][hapmap];0.84[CEU][hapmap];0.95[CHB][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1681886	0.85[CHB][hapmap]
rs1681904	0.89[ASW][hapmap];0.84[CEU][hapmap];0.95[CHB][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1681905	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1784469	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1784472	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1784473	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1784480	0.82[JPT][hapmap]
rs1784492	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1784494	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2126581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627788	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2627790	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3101526	0.83[YRI][hapmap]
rs3101528	0.82[GIH][hapmap]
rs3101542	0.83[GIH][hapmap]
rs3101548	0.85[GIH][hapmap];0.83[YRI][hapmap]
rs3110421	0.83[YRI][hapmap]
rs3110423	0.83[YRI][hapmap]
rs3110430	0.85[GIH][hapmap]
rs3132803	0.88[YRI][hapmap];0.80[AFR][1000 genomes]
rs3134142	0.83[YRI][hapmap]
rs725906	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs776932	0.82[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs776933	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs776934	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs776938	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs776939	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs776941	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs776944	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs776946	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs776948	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs776949	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs776950	0.84[CEU][hapmap];0.95[CHB][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs776951	0.81[ASW][hapmap];0.84[CEU][hapmap];0.95[CHB][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs776954	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs776960	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs776961	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs776962	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs776963	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs776965	0.89[ASW][hapmap];0.84[CEU][hapmap];0.95[CHB][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533134	chr8:107307812-107670002	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv6342	chr8:107644092-107688898	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107667000-107671400	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr8:107668600-107670800	Active TSS	Fetal Kidney	kidney
3	chr8:107668600-107672200	Active TSS	Rectal Smooth Muscle	rectum
4	chr8:107668800-107670800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr8:107668800-107671000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:107668800-107671000	Active TSS	NHDF-Ad	bronchial
7	chr8:107668800-107671200	Active TSS	Sigmoid Colon	Sigmoid Colon
8	chr8:107668800-107672000	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr8:107669000-107670000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:107669000-107670600	Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr8:107669000-107671000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr8:107669000-107671000	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr8:107669000-107671000	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr8:107669000-107671000	Active TSS	Muscle Satellite Cultured Cells	--
15	chr8:107669000-107671000	Active TSS	HMEC	breast
16	chr8:107669000-107671200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:107669000-107671600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:107669000-107671800	Active TSS	Right Atrium	heart
19	chr8:107669000-107671800	Active TSS	K562	blood
20	chr8:107669200-107670000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:107669200-107670000	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
22	chr8:107669200-107670200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:107669200-107670200	Active TSS	Colonic Mucosa	Colon
24	chr8:107669200-107670400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr8:107669200-107670800	Active TSS	Thymus	Thymus
26	chr8:107669200-107670800	Active TSS	NH-A	brain
27	chr8:107669200-107671000	Active TSS	H1 Cell Line	embryonic stem cell
28	chr8:107669200-107671000	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr8:107669200-107671000	Active TSS	Placenta Amnion	Placenta Amnion
30	chr8:107669200-107671000	Active TSS	A549	lung
31	chr8:107669200-107671200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:107669200-107671200	Active TSS	Primary monocytes fromperipheralblood	blood
33	chr8:107669200-107671200	Active TSS	Primary T cells fromperipheralblood	blood
34	chr8:107669200-107671200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:107669200-107671200	Active TSS	Brain Hippocampus Middle	brain
36	chr8:107669200-107671200	Active TSS	Fetal Intestine Small	intestine
37	chr8:107669200-107671200	Active TSS	Fetal Lung	lung
38	chr8:107669200-107671200	Active TSS	Fetal Muscle Trunk	muscle
39	chr8:107669200-107671200	Active TSS	Fetal Muscle Leg	muscle
40	chr8:107669200-107671200	Active TSS	Fetal Thymus	thymus
41	chr8:107669200-107671200	Active TSS	Stomach Mucosa	stomach
42	chr8:107669200-107671400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:107669200-107671400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:107669200-107671400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:107669200-107671400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr8:107669200-107671400	Active TSS	Ovary	ovary
47	chr8:107669200-107671400	Active TSS	Stomach Smooth Muscle	stomach
48	chr8:107669200-107671400	Active TSS	GM12878-XiMat	blood
49	chr8:107669200-107671600	Active TSS	H9 Cell Line	embryonic stem cell
50	chr8:107669200-107671600	Active TSS	Psoas Muscle	Psoas

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